C8orf33 (chromosome 8 open reading frame 33) - Rat Genome Database

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Gene: C8orf33 (chromosome 8 open reading frame 33) Homo sapiens
Analyze
Symbol: C8orf33
Name: chromosome 8 open reading frame 33
RGD ID: 1606509
HGNC Page HGNC
Description: INTERACTS WITH aflatoxin B1; benzo[a]pyrene; benzo[a]pyrene diol epoxide I
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ20989; hypothetical protein LOC65265; UPF0488 protein C8orf33
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8145,052,465 - 145,066,685 (+)EnsemblGRCh38hg38GRCh38
GRCh388145,052,467 - 145,065,864 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378146,277,853 - 146,281,416 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368146,248,630 - 146,252,220 (+)NCBINCBI36hg18NCBI36
Celera8142,454,766 - 142,458,407 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8141,393,625 - 141,397,217 (+)NCBIHuRef
CHM1_18146,316,100 - 146,319,692 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:16169070   PMID:16344560   PMID:19060904   PMID:21145461   PMID:21244100   PMID:21832049   PMID:21900206   PMID:21907836   PMID:22658674   PMID:25416956   PMID:25693804  
PMID:25814554   PMID:26186194   PMID:26496610   PMID:26949251   PMID:27025967   PMID:27432908   PMID:28077445   PMID:28514442   PMID:29298432   PMID:29802200   PMID:29845934   PMID:30021884  
PMID:30209976   PMID:31073040   PMID:31239290   PMID:31515488   PMID:31527615   PMID:31822558   PMID:31950832   PMID:31980649   PMID:32129710   PMID:32296183   PMID:33001583  


Genomics

Comparative Map Data
C8orf33
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8145,052,465 - 145,066,685 (+)EnsemblGRCh38hg38GRCh38
GRCh388145,052,467 - 145,065,864 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378146,277,853 - 146,281,416 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368146,248,630 - 146,252,220 (+)NCBINCBI36hg18NCBI36
Celera8142,454,766 - 142,458,407 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8141,393,625 - 141,397,217 (+)NCBIHuRef
CHM1_18146,316,100 - 146,319,692 (+)NCBICHM1_1
1110038F14Rik
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,832,453 - 76,835,179 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,832,706 - 76,835,179 (+)Ensembl
GRCm381576,948,251 - 76,950,979 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,948,506 - 76,950,979 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,778,974 - 76,781,162 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,775,799 - 76,777,987 (+)NCBImm8
Celera1578,443,569 - 78,445,757 (+)NCBICelera
Cytogenetic Map15D3NCBI
LOC681282
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,682,063 - 108,684,372 (+)NCBI
Rnor_6.0 Ensembl7118,023,628 - 118,025,287 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07118,023,363 - 118,025,621 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07118,007,537 - 118,009,774 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47115,010,035 - 115,012,027 (+)NCBIRGSC3.4rn4RGSC3.4
Celera7105,030,557 - 105,032,815 (+)NCBICelera
Cytogenetic Map7q34NCBI
LOC102021306
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554543,515,979 - 3,520,341 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554543,515,898 - 3,518,046 (+)NCBIChiLan1.0ChiLan1.0
C8H8orf33
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v08141,824,715 - 141,841,705 (+)NCBIMhudiblu_PPA_v0panPan3
C13H8orf33
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11338,216,273 - 38,224,449 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1338,183,447 - 38,185,390 (+)NCBI
ROS_Cfam_1.01338,696,652 - 38,698,595 (+)NCBI
UMICH_Zoey_3.11338,387,962 - 38,389,905 (+)NCBI
UNSW_CanFamBas_1.01338,497,328 - 38,499,271 (+)NCBI
UU_Cfam_GSD_1.01338,972,250 - 38,974,193 (+)NCBI
CUNH8orf33
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530347,497 - 49,773 (-)NCBI
SpeTri2.0NW_00493738247,374 - 49,701 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C4H8orf33
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1446,008 - 61,713 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2472,911 - 91,742 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CUNH8orf33
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18139,253,682 - 139,255,767 (+)NCBI
ChlSab1.1 Ensembl8139,253,640 - 139,255,489 (+)Ensembl
CUNH8orf33
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473511,976,128 - 11,978,365 (-)NCBI

Position Markers
RH65235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378146,279,592 - 146,279,733UniSTSGRCh37
Build 368146,250,396 - 146,250,537RGDNCBI36
Celera8142,456,534 - 142,456,675RGD
Cytogenetic Map8q24.3UniSTS
HuRef8141,395,393 - 141,395,534UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR24-2hsa-miR-24-3pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)19296935
MIR24-1hsa-miR-24-3pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)19296935

Predicted Target Of
Summary Value
Count of predictions:1576
Count of miRNA genes:893
Interacting mature miRNAs:1030
Transcripts:ENST00000331434, ENST00000524395, ENST00000529593, ENST00000530455, ENST00000534350
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2
Medium 2436 2200 1628 528 1290 369 4353 2070 3724 404 1453 1610 175 1 1204 2784 5 2
Low 3 791 98 96 661 96 4 127 10 15 5 3 4 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000331434   ⟹   ENSP00000330361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8145,052,467 - 145,056,030 (+)Ensembl
RefSeq Acc Id: ENST00000524395
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8145,052,465 - 145,054,438 (+)Ensembl
RefSeq Acc Id: ENST00000529593
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8145,052,468 - 145,053,437 (+)Ensembl
RefSeq Acc Id: ENST00000530455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8145,052,467 - 145,056,030 (+)Ensembl
RefSeq Acc Id: ENST00000534350
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8145,052,467 - 145,054,194 (+)Ensembl
RefSeq Acc Id: ENST00000647640   ⟹   ENSP00000497608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8145,052,467 - 145,066,624 (+)Ensembl
RefSeq Acc Id: ENST00000647724   ⟹   ENSP00000496962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8145,052,467 - 145,066,679 (+)Ensembl
RefSeq Acc Id: ENST00000648531   ⟹   ENSP00000497694
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8145,052,467 - 145,066,516 (+)Ensembl
RefSeq Acc Id: ENST00000648784   ⟹   ENSP00000497427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8145,052,467 - 145,066,685 (+)Ensembl
RefSeq Acc Id: NM_023080   ⟹   NP_075568
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388145,052,467 - 145,056,030 (+)NCBI
GRCh378146,277,823 - 146,281,416 (+)NCBI
Build 368146,248,630 - 146,252,220 (+)NCBI Archive
Celera8142,454,766 - 142,458,407 (+)RGD
HuRef8141,393,625 - 141,397,217 (+)ENTREZGENE
CHM1_18146,316,100 - 146,319,692 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447234   ⟹   XP_024303002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388145,052,467 - 145,065,864 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_075568   ⟸   NM_023080
- UniProtKB: Q9H7E9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024303002   ⟸   XM_024447234
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000497694   ⟸   ENST00000648531
RefSeq Acc Id: ENSP00000330361   ⟸   ENST00000331434
RefSeq Acc Id: ENSP00000497427   ⟸   ENST00000648784
RefSeq Acc Id: ENSP00000496962   ⟸   ENST00000647724
RefSeq Acc Id: ENSP00000497608   ⟸   ENST00000647640

Promoters
RGD ID:7214531
Promoter ID:EPDNEW_H13012
Type:initiation region
Name:C8orf33_1
Description:chromosome 8 open reading frame 33
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388145,052,467 - 145,052,527EPDNEW
RGD ID:6806525
Promoter ID:HG_KWN:62385
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_023080,   UC003ZFD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368146,247,956 - 146,248,752 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.3(chr8:144992787-145054634)x1 copy number loss See cases [RCV000050610] Chr8:144992787..145054634 [GRCh38]
Chr8:146218173..146280020 [GRCh37]
Chr8:146188977..146250824 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144913443-145076819)x1 copy number loss See cases [RCV000052822] Chr8:144913443..145076819 [GRCh38]
Chr8:146138828..146302205 [GRCh37]
Chr8:146109632..146273009 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144925972-145054634)x1 copy number loss See cases [RCV000133727] Chr8:144925972..145054634 [GRCh38]
Chr8:146151358..146280020 [GRCh37]
Chr8:146122162..146250824 [NCBI36]
Chr8:8q24.3
benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144992787-145054781)x1 copy number loss See cases [RCV000139109] Chr8:144992787..145054781 [GRCh38]
Chr8:146218173..146280167 [GRCh37]
Chr8:146188977..146250971 [NCBI36]
Chr8:8q24.3
likely benign
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NC_000008.11:g.145064048A>G single nucleotide variant Lung cancer [RCV000107241] Chr8:145064048 [GRCh38]
Chr8:146289434 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:146078864-146293414)x3 copy number gain not provided [RCV000748045] Chr8:146078864..146293414 [GRCh37]
Chr8:8q24.3
benign
NM_023080.3(C8orf33):c.626C>G (p.Ser209Cys) single nucleotide variant not provided [RCV000969553] Chr8:145054093 [GRCh38]
Chr8:146279479 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
NM_023080.3(C8orf33):c.516C>T (p.Ala172=) single nucleotide variant not provided [RCV000956689] Chr8:145053409 [GRCh38]
Chr8:146278795 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26104 AgrOrtholog
COSMIC C8orf33 COSMIC
Ensembl Genes ENSG00000182307 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000330361 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000496962 UniProtKB/TrEMBL
  ENSP00000497427 UniProtKB/TrEMBL
  ENSP00000497608 UniProtKB/TrEMBL
  ENSP00000497694 UniProtKB/TrEMBL
Ensembl Transcript ENST00000331434 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000647640 UniProtKB/TrEMBL
  ENST00000647724 UniProtKB/TrEMBL
  ENST00000648531 UniProtKB/TrEMBL
  ENST00000648784 UniProtKB/TrEMBL
GTEx ENSG00000182307 GTEx
HGNC ID HGNC:26104 ENTREZGENE
Human Proteome Map C8orf33 Human Proteome Map
InterPro DUF4615 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:65265 UniProtKB/Swiss-Prot
NCBI Gene 65265 ENTREZGENE
PANTHER PTHR13602 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF4615 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672352 PharmGKB
UniProt A0A3B3IRR6_HUMAN UniProtKB/TrEMBL
  A0A3B3IT54_HUMAN UniProtKB/TrEMBL
  A0A3B3ITA3_HUMAN UniProtKB/TrEMBL
  CH033_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6NGC0 UniProtKB/Swiss-Prot
  Q96BT8 UniProtKB/Swiss-Prot